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Jorge Di Paola
dipaolaj@wustl.edu
Professor of Pediatrics, Division Chief, Hematology & Oncology
Hematology and Oncology
phone: (314) 454-6018
Education
MD,
University of Buenos Aires
,
1990
Training
Pediatric Residency, Hospital Nacional de Pediatría “Juan P. Garrahan”
,
1991
-
1994
Pediatric Hematology-Oncology Fellowship, Children’s Hospital of Orange County
,
1995
-
1997
Pediatric Residency 2nd & 3rd years, Children’s Hospital of Orange County
,
1997
-
1999
Hematology-Oncology Fellowship 3rd year, Children’s Hospital of Orange County
,
1999
-
2000
Licensure and Board Certification
CA, California Medical License
IA, Iowa Medical License
CO, Colorado Medical License
2000
-
Pres
American Board of Pediatric (Hematology & Oncology)
Honors and Awards
Scholar, Children’s Health Research Center (CHRC-K12-NIH) University of Iowa
,
2001
- 2003
Hemophilia and Thrombosis Research Society Investigator in Hemostasis Award
,
2003
James C. Taylor Teaching Award, University of Iowa, Department of Pediatrics
,
2003
The Inaugural Postle Family Chair in Pediatric Cancer and Blood Disorders, Children's Hospital Colorado
,
2008
- 2019
Best Doctors in America
,
2009
Vice-President, President Elect: Hemostasis and Thrombosis Research Society (HTRS)
,
2010
Best Doctors in America
,
2011
Best Doctors in America
,
2012
Excellence in Mentoring and Advising Award, Research/Scholarship, University of Colorado School of Medicine
,
2012
Chair, Von Willebrand Factor Subcommittee, International Society of Thrombosis and Hemostasis (ISTH)
,
2013
- 2016
Frank Oski Memorial Lectureship Award, American Society of Pediatric Hematology Oncology
,
2013
Chair, State of the Art Symposium, American Society of Hematology (ASH)
,
2014
Co-Vice Chair, Gordon Research Conference in Hemostasis
,
2014
Elected Member-At-Large of the Leadership Committee of the Arteriosclerosis Thrombosis and Vascular Biology (ATVB) Council of the American Heart Association (AHA)
,
2014
Arthur R. Thompson Inaugural Lectureship, Puget Sound Blood Center, University of Washington
,
2015
Best Doctors in America
,
2015
Co-Chair (with James Morrissey, PhD), Gordon Research Conference in Hemostasis
,
2016
Co-Chair (with Selina Luger, MD), Education Program American Society of Hematology Annual 58th Annual Meeting
,
2016
Scientific Advisory Board, National Rare Diseases Center (CIBERER), Spain
,
2016
- Pres
Visiting Professor, Aflac Cancer and Blood Disorders Center Fall Research Conference, Emory University
,
2016
Best Doctors in America
,
2017
Elected Member, American Association of Physicians (AAP)
,
2017
Elected Member International Society of Thrombosis and Haemostasis (ISTH) Council, Class of 2024
,
2018
Elected Vice President (President Elect) American Society of Pediatric Hematology Oncology (ASPHO)
,
2018
Ralph Gruppo Inaugural Lectureship, Cincinnati Children's Hospital
,
2018
Elizabeth Finney McDonnell Endowed Chair in Pediatric Hematology Oncology, Washington University in St. Louis
,
2020
- Pres
Elected Member American Pediatric Society
,
2020
Recent Publications
view all (118)
Publication Co-Authors
Megan A. Cooper, M.D., Ph.D.
David Bark
Sadler B, Christopherson P, Haller G, Montgomery RR, Di Paola J, Investigators TZP.
VWF antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene.
Blood
.
2021.
PMID:
33556167
Connell NT, James PD, Brignardello-Petersen R, Abdul-Kadir R, Ameer B, Arapshian A, Couper S, Di Paola J, Eikenboom J, Giraud N, Grow JM, Haberichter S, Jacobs-Pratt V, Konkle BA, Kouides P, Laffan M, Lavin M, Leebeek FWG, McLintock C, McRae S, Montgomery R, O'Brien SH, O'Donnell JS, Ozelo MC, Scappe N, Sidonio R, Tosetto A, Weyand AC, Kalot MA, Husainat N, Mustafa RA, Flood VH.
von Willebrand disease: proposing definitions for future research.
Blood Adv
.
2021;5
(2):
565-569.
PMCID:
PMC7839375
PMID:
33496750
Ross JE, Zhang BM, Lee K, Mohan S, Branchford BR, Bray P, Dugan SN, Freson K, Heller PG, Kahr WHA, Lambert MP, Luchtman-Jones L, Luo M, Perez Botero J, Rondina MT, Ryan G, Westbury S, Bergmeier W, Di Paola J.
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.
Blood Adv
.
2021;5
(2):
414-431.
PMCID:
PMC7839359
PMID:
33496739
James PD, Connell NT, Ameer B, Di Paola J, Eikenboom J, Giraud N, Haberichter S, Jacobs-Pratt V, Konkle B, McLintock C, McRae S, R Montgomery R, O'Donnell JS, Scappe N, Sidonio R, Flood VH, Husainat N, Kalot MA, Mustafa RA.
ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease.
Blood Adv
.
2021;5
(1):
280-300.
PMCID:
PMC7805340
PMID:
33570651
Doherty D, Lavin M, O'Sullivan JM, Ryan K, O'Connell NM, Dougall A, Byrne M, Rafferty M, Doyle MM, Di Paola J, James PD, O'Donnell JS.
Management of elective procedures in low von Willebrand factor patients in the LoVIC study.
J Thromb Haemost
.
2020.
PMID:
33346399
Delaney C, Davizon-Castillo P, Allawzi A, Posey J, Gandjeva A, Neeves K, Tuder RM,
Di Paola J
, Stenmark KR, Nozik ES.
Platelet activation contributes to hypoxia-induced inflammation
Am J Physiol Lung Cell Mol Physiol
.
2020.
doi:
10.1152/ajplung.00519.2020
PMID:
33264579
Porter CC, Di Paola J, Pencheva B, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Porter CC, Di Paola J, Pencheva B.
ETV6
Thrombocytopenia and Predisposition to Leukemia
2020.
PMID:
33226740
Fisher MH, Kirkpatrick GD, Stevens B, Jones C, Callaghan M, Rajpurkar M, Fulbright J, Cooper MA, Rowley J, Porter CC, Gutierrez-Hartmann A, Jones K, Jordan C, Pietras EM, Di Paola J.
ETV6 germline mutations cause HDAC3/NCOR2 mislocalization and upregulation of interferon response genes.
JCI Insight
.
2020;5
(18).
PMID:
32841218
Gupta S, Konradt C, Corken A, Ware J, Nieswandt B, Di Paola J, Yu M, Wang D, Nieman MT, Whiteheart SW, Brass LF.
Hemostasis vs. homeostasis: Platelets are essential for preserving vascular barrier function in the absence of injury or inflammation.
Proc Natl Acad Sci U S A
.
2020.
PMID:
32929010
Bortot M, Sharifi A, Ashworth K, Walker F, Cox A, Ruegg K, Clendenen N, Neeves KB, Bark D Jr, Di Paola J.
Pathologic Shear and Elongation Rates Do Not Cause Cleavage of Von Willebrand Factor by ADAMTS13 in a Purified System.
Cell Mol Bioeng
.
2020;13
(4):
379-390.
PMCID:
PMC7479076
PMID:
32952737
Kim DA, Ashworth KJ, Di Paola J, Ku DN.
Platelet α-granules are required for occlusive high-shear-rate thrombosis.
Blood Adv
.
2020;4
(14):
3258-3267.
PMCID:
PMC7391145
PMID:
32697818
Park I, Johnson LK, Cox A, Branchford BR, Di Paola J, Bublil EM, Majtan T.
Hypermethioninemia Leads to Fatal Bleeding and Increased Mortality in a Transgenic I278T Mouse Model of Homocystinuria.
Biomedicines
.
2020;8
(8).
PMCID:
PMC7459533
PMID:
32722248
Di Paola J, Fisher MH.
ETV6-related thrombocytopenia and platelet dysfunction.
Platelets
.
2020;1-3.
PMID:
32406789
Botero JP, Lee K, Branchford BR, Bray PF, Freson K, Lambert MP, Luo M, Mohan S, Ross JE, Bergmeier W, Di Paola J, ClinGen Platelet Disorder Variant Curation Expert Panel..
Glanzmann thrombasthenia: genetic basis and clinical correlates.
Haematologica
.
2020;105
(4):
888-894.
PMCID:
PMC7109743
PMID:
32139434
Davizon-Castillo P, Allawzi A, Sorrells M, Fisher S, Baltrunaite K, Neeves K, Nozik-Grayck E,
DiPaola J
, Delaney C.
Platelet activation in experimental murine neonatal pulmonary hypertension
Physiol Rep
.
2020.
doi:
10.14814/phy2.14386
PMID:
32163236
Kalot MA, Al-Khatib M, Connell NT, Flood V, Brignardello-Petersen R, James P, Mustafa RA, VWD working group..
An international survey to inform priorities for new guidelines on von Willebrand disease.
Haemophilia
.
2019.
PMID:
31769905
Majtan T, Park I, Cox A, Branchford BR, di Paola J, Bublil EM, Kraus JP.
Behavior, body composition, and vascular phenotype of homocystinuric mice on methionine-restricted diet or enzyme replacement therapy.
FASEB J
.
2019;33
(11):
12477-12486.
PMCID:
PMC6902697
PMID:
31450979
Link KG, Stobb MT, Sorrells MG, Bortot M, Ruegg K, Manco-Johnson MJ, Di Paola JA, Sindi SS, Fogelson AL, Leiderman K, Neeves KB.
A mathematical model of coagulation under flow identifies factor V as a modifier of thrombin generation in hemophilia A.
J Thromb Haemost
.
2019.
PMID:
31562694
Bortot M, Ashworth K, Sharifi A, Walker F, Crawford NC, Neeves KB, Bark D Jr, Di Paola J.
Turbulent Flow Promotes Cleavage of VWF (von Willebrand Factor) by ADAMTS13 (A Disintegrin and Metalloproteinase With a Thrombospondin Type-1 Motif, Member 13).
Arterioscler Thromb Vasc Biol
.
2019;39
(9):
1831-1842.
PMID:
31291760
Davizon-Castillo P, McMahon B, Aguila S, Bark D, Ashworth K, Allawzi A, Campbell RA, Montenont E, Nemkov T, D'Alessandro A, Clendenen N, Shih L, Sanders NA, Higa K, Cox A, Padilla-Romo Z, Hernandez G, Wartchow E, Trahan GD, Nozik-Grayck E, Jones K, Pietras EM, DeGregori J, Rondina MT, Di Paola J.
TNF-α-driven inflammation and mitochondrial dysfunction define the platelet hyperreactivity of aging.
Blood
.
2019;134
(9):
727-740.
PMCID:
PMC6716075
PMID:
31311815
Di Paola J, Porter CC.
ETV6-related thrombocytopenia and leukemia predisposition.
Blood
.
2019;134
(8):
663-667.
PMCID:
PMC6706811
PMID:
31248877
Ward CM, Andrews RK, ISTH State of the Art Speakers..
Illustrated State-of-the-Art Capsules of the ISTH 2019 Congress in Melbourne, Australia.
Res Pract Thromb Haemost
.
2019;3
(3):
431-497.
PMCID:
PMC6611378
PMID:
31294333
Hernandez G, Mills TS, Rabe JL, Chavez JS, Kuldanek S, Kirkpatrick G, Noetzli L, Jubair WK, Zanche M, Meyers JR, Stevens BM, Fleenor CJ, Adane B, Dinarello CA, Ashton J, Jordan CT, Di Paola J, Hagman JR, Holers VM, Kuhn KA, Pietras EM.
Pro-inflammatory cytokine blockade attenuates myeloid expansion in a murine model of rheumatoid arthritis.
Haematologica
.
2019.
PMID:
31101752
Aguila S, Lavin M, Dalton N, Patmore S, Chion A, Trahan GD, Jones KL, Keenan C, Brophy TM, O'Connell NM, Ryan K, Byrne M, Nolan M, Patel A, Preston RJS, James P, Di Paola J, O'Sullivan JM, O'Donnell JS.
Increased galactose expression and enhanced clearance in patients with low von Willebrand factor.
Blood
.
2019;133
(14):
1585-1596.
PMID:
30770394
Hu Z, Lavik KI, Liu Y, Vo AH, Richter CE, Di Paola J, Shavit JA.
Loss of fibrinogen in zebrafish results in an asymptomatic embryonic hemostatic defect and synthetic lethality with thrombocytopenia.
J Thromb Haemost
.
2019;17
(4):
607-617.
PMCID:
PMC6443434
PMID:
30663848
Riemondy KA, Ransom M, Alderman C, Gillen AE, Fu R, Finlay-Schultz J, Kirkpatrick GD, Di Paola J, Kabos P, Sartorius CA, Hesselberth JR.
Recovery and analysis of transcriptome subsets from pooled single-cell RNA-seq libraries.
Nucleic Acids Res
.
2019;47
(4):
e20.
PMCID:
PMC6393243
PMID:
30496484
Di Paola J, Bray PF.
One over PAR or one under PAR: vive la différence.
Blood
.
2018;132
(19):
2007-2008.
PMCID:
PMC6236467
PMID:
30409895
Kim JS, Kaufman J, Patel SS, Manco-Johnson M, Di Paola J, da Cruz EM.
Antiplatelet Effect of Ketorolac in Children After Congenital Cardiac Surgery.
World J Pediatr Congenit Heart Surg
.
2018;9
(6):
651-658.
PMID:
30322371
Fisher MH, Di Paola J.
Genomics and transcriptomics of megakaryocytes and platelets: Implications for health and disease.
Res Pract Thromb Haemost
.
2018;2
(4):
630-639.
PMCID:
PMC6178711
PMID:
30349880
Smith N, Bornikova L, Noetzli L, Guglielmone H, Minoldo S, Backos DS, Jacobson L, Thornburg CD, Escobar M, White-Adams TC, Wolberg AS, Manco-Johnson M, Di Paola J.
Identification and characterization of novel mutations implicated in congenital fibrinogen disorders.
Res Pract Thromb Haemost
.
2018;2
(4):
800-811.
PMCID:
PMC6178649
PMID:
30349899
Pluthero FG, Di Paola J, Carcao MD, Kahr WHA.
NBEAL2 mutations and bleeding in patients with gray platelet syndrome.
Platelets
.
2018;29
(6):
632-635.
PMID:
29869935
Link KG, Stobb MT, Di Paola J, Neeves KB, Fogelson AL, Sindi SS, Leiderman K.
A local and global sensitivity analysis of a mathematical model of coagulation and platelet deposition under flow.
PLoS One
.
2018;13
(7):
e0200917.
PMCID:
PMC6062055
PMID:
30048479
Lavin M, Aguila S, Dalton N, Nolan M, Byrne M, Ryan K, White B, O'Connell NM, O'Sullivan JM, Di Paola J, James PD, O'Donnell JS.
Significant gynecological bleeding in women with low von Willebrand factor levels.
Blood Adv
.
2018;2
(14):
1784-1791.
PMCID:
PMC6058240
PMID:
30042144
Shan Z, Liu X, Chen Y, Wang M, Gao YR, Xu L, Dar WA, Lee CG, Elias JA, Castillo PD, Di Paola J, Ju C.
Chitinase 3-like-1 promotes intrahepatic activation of coagulation through induction of tissue factor in mice.
Hepatology
.
2018;67
(6):
2384-2396.
PMCID:
PMC5992002
PMID:
29251791
Ng CJ, Di Paola J.
von Willebrand Disease: Diagnostic Strategies and Treatment Options.
Pediatr Clin North Am
.
2018;65
(3):
527-541.
PMID:
29803281
Law LA, Graham DK, Di Paola J, Branchford BR.
GAS6/TAM Pathway Signaling in Hemostasis and Thrombosis.
Front Med (Lausanne)
.
2018;5:137.
PMCID:
PMC5954114
PMID:
29868590
Ng CJ, McCrae KR, Ashworth K, Sosa LJ, Betapudi V, Manco-Johnson MJ, Liu A, Dong JF, Chung D, White-Adams TC, López JA, Di Paola J.
Effects of anti-β2GPI antibodies on VWF release from human umbilical vein endothelial cells and ADAMTS13 activity.
Res Pract Thromb Haemost
.
2018;2
(2):
380-389.
PMCID:
PMC5974922
PMID:
30046742
Branchford BR, Stalker TJ, Law L, Acevedo G, Sather S, Brzezinski C, Wilson KM, Minson K, Lee-Sherick AB, Davizon-Castillo P, Ng C, Zhang W, Neeves KB, Lentz SR, Wang X, Frye SV, Shelton Earp H 3rd, DeRyckere D, Brass LF, Graham DK, Di Paola JA.
The small-molecule MERTK inhibitor UNC2025 decreases platelet activation and prevents thrombosis.
J Thromb Haemost
.
2018;16
(2):
352-363.
PMCID:
PMC5858881
PMID:
29045015
Lehmann M, Ashworth K, Manco-Johnson M, Di Paola J, Neeves KB, Ng CJ.
Evaluation of a microfluidic flow assay to screen for von Willebrand disease and low von Willebrand factor levels.
J Thromb Haemost
.
2018;16
(1):
104-115.
PMCID:
PMC5794217
PMID:
29064615
Lavin M, Aguila S, Schneppenheim S, Dalton N, Jones KL, O'Sullivan JM, O'Connell NM, Ryan K, White B, Byrne M, Rafferty M, Doyle MM, Nolan M, Preston RJS, Budde U, James P, Di Paola J, O'Donnell JS.
Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.
Blood
.
2017;130
(21):
2344-2353.
PMCID:
PMC5881608
PMID:
28916584
McGraw MD, Osborne CM, Mastej EJ, Di Paola JA, Anderson DR, Holmes WW, Paradiso DC, Garlick RB, Hendry-Hofer TB, Rancourt RC, Smith RW, Burns C, Roe GB, Rioux JS, White CW, Veress LA.
Editor's Highlight: Pulmonary Vascular Thrombosis in Rats Exposed to Inhaled Sulfur Mustard.
Toxicol Sci
.
2017;159
(2):
461-469.
PMCID:
PMC5837673
PMID:
28962529
Miller CH, Boylan B, Shapiro AD, Lentz SR, Wicklund BM, Hemophilia Inhibitor Research Study Investigators..
Limit of detection and threshold for positivity of the Centers for Disease Control and Prevention assay for factor VIII inhibitors.
J Thromb Haemost
.
2017;15
(10):
1971-1976.
PMCID:
PMC5716470
PMID:
28795528
Maloney JP, Branchford BR, Brodsky GL, Cosmic MS, Calabrese DW, Aquilante CL, Maloney KW, Gonzalez JR, Zhang W, Moreau KL, Wiggins KL, Smith NL, Broeckel U, Di Paola J.
The
ENTPD1
promoter polymorphism -860 A > G (rs3814159) is associated with increased gene transcription, protein expression, CD39/NTPDase1 enzymatic activity, and thromboembolism risk.
FASEB J
.
2017;31
(7):
2771-2784.
PMCID:
PMC6137499
PMID:
28302652
Kastelowitz N, Tamura R, Onasoga A, Stalker TJ, White OR, Brown PN, Brodsky GL, Brass LF, Branchford BR, Di Paola J, Yin H.
Peptides derived from MARCKS block coagulation complex assembly on phosphatidylserine.
Sci Rep
.
2017;7
(1):
4275.
PMCID:
PMC5487340
PMID:
28655899
Davizon-Castillo P, Di Paola J.
Tamoxifen Suppresses Platelet Activation-Supported Angiogenesis and Metastasis.
Arterioscler Thromb Vasc Biol
.
2017;37
(4):
611-612.
PMCID:
PMC5873979
PMID:
28330945
Moreira DC, Di Paola J.
Microangiopathic hemolytic anemia due to ADAMTS-13 loss in idiopathic systemic capillary leak syndrome: reply.
J Thromb Haemost
.
2017;15
(4):
827-828.
PMID:
28182327
Schoeman RM, Rana K, Danes N, Lehmann M, Di Paola JA, Fogelson AL, Leiderman K, Neeves KB.
A microfluidic model of hemostasis sensitive to platelet function and coagulation.
Cell Mol Bioeng
.
2017;10
(1):
3-15.
PMCID:
PMC5435378
PMID:
28529666
Moreira DC, Ng CJ, Quinones R, Liang X, Chung DW, Di Paola J.
Microangiopathic hemolytic anemia due to ADAMTS-13 loss in idiopathic systemic capillary leak syndrome.
J Thromb Haemost
.
2016;14
(12):
2353-2355.
PMCID:
PMC6553946
PMID:
27622772
Gupta S, Heiman M, Duncan N, Hinckley J, Di Paola J, Shapiro AD.
Variable bleeding phenotype in an Amish pedigree with von Willebrand disease.
Am J Hematol
.
2016;91
(10):
E431-5.
PMCID:
PMC5031525
PMID:
27414491
Boylan B, Rice AS, Neff AT, Manco-Johnson MJ, Kempton CL, Miller CH, Hemophilia Inhibitor Research Study Investigators..
Survey of the anti-factor IX immunoglobulin profiles in patients with hemophilia B using a fluorescence-based immunoassay.
J Thromb Haemost
.
2016;14
(10):
1931-1940.
PMCID:
PMC5083216
PMID:
27501440
Deng W, Xu Y, Chen W, Paul DS, Syed AK, Dragovich MA, Liang X, Zakas P, Berndt MC, Di Paola J, Ware J, Lanza F, Doering CB, Bergmeier W, Zhang XF, Li R.
Platelet clearance via shear-induced unfolding of a membrane mechanoreceptor.
Nat Commun
.
2016;7:12863.
PMCID:
PMC5052631
PMID:
27670775
Guglielmone HA, Smith N, Minoldo S, Jarchum GD, White-Adams T, Di Paola J.
Platelet abnormalities in a family with von Willebrand disease type 2B (V1316M) and association with bleeding score.
Haemophilia
.
2016;22
(5):
e455-8.
PMID:
27385556
White-Adams TC, Ng CJ, Jacobi PM, Haberichter SL, Di Paola JA.
Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.
Thromb Res
.
2016;145:112-8.
PMCID:
PMC5951169
PMID:
27533707
Tomberg K, Khoriaty R, Westrick RJ, Fairfield HE, Reinholdt LG, Brodsky GL, Davizon-Castillo P, Ginsburg D, Di Paola J.
Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice.
PLoS One
.
2016;11
(3):
e0150852.
PMCID:
PMC4780761
PMID:
26950939
Othman M, Kaur H, Favaloro EJ, Lillicrap D, Di Paola J, Harrison P, Gresele P, Subcommittees on von Willebrand Disease and Platelet Physiology..
Platelet type von Willebrand disease and registry report: communication from the SSC of the ISTH.
J Thromb Haemost
.
2016;14
(2):
411-4.
PMID:
26882161
Di Paola J.
Paris-Trousseau: evidence keeps pointing to FLI1.
Blood
.
2015;126
(17):
1973-4.
PMID:
26494917
Kirkpatrick G, Noetzli L, Di Paola J, Porter CC.
ETV6 mutations define a new cancer predisposition syndrome.
Oncotarget
.
2015;6
(19):
16830-1.
PMCID:
PMC4627276
PMID:
26219557
Chen J, Hinckley JD, Haberichter S, Jacobi P, Montgomery R, Flood VH, Wong R, Interlandi G, Chung DW, López JA, Di Paola J.
Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease.
Blood
.
2015;126
(2):
262-9.
PMCID:
PMC4497966
PMID:
26019279
Branchford BR, Ng CJ, Neeves KB, Di Paola J.
Microfluidic technology as an emerging clinical tool to evaluate thrombosis and hemostasis.
Thromb Res
.
2015;136
(1):
13-9.
PMCID:
PMC4910695
PMID:
26014643
Bodó I, Eikenboom J, Montgomery R, Patzke J, Schneppenheim R, Di Paola J, von Willebrand factor Subcommittee of the Standardization and Scientific Committee of the International Society for Thrombosis and Haemostasis..
Platelet-dependent von Willebrand factor activity. Nomenclature and methodology: communication from the SSC of the ISTH.
J Thromb Haemost
.
2015;13
(7):
1345-50.
PMCID:
PMC5576173
PMID:
25858564
Boylan B, Rice AS, De Staercke C, Eyster ME, Yaish HM, Knoll CM, Bean CJ, Miller CH, Hemophilia Inhibitor Research Study Investigators..
Evaluation of von Willebrand factor phenotypes and genotypes in Hemophilia A patients with and without identified F8 mutations.
J Thromb Haemost
.
2015;13
(6):
1036-42.
PMCID:
PMC4512234
PMID:
25780857
Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini C, Pecci A, Gnan C, De Rocco D, Doubek M, Li L, Lu L, Leung R, Landolt-Marticorena C, Hunger S, Heller P, Gutierrez-Hartmann A, Xiayuan L, Pluthero FG, Rowley JW, Weyrich AS, Kahr WHA, Porter CC, Di Paola J.
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.
Nat Genet
.
2015;47
(5):
535-538.
PMCID:
PMC4631613
PMID:
25807284
Ng C, Motto DG, Di Paola J.
Diagnostic approach to von Willebrand disease.
Blood
.
2015;125
(13):
2029-37.
PMCID:
PMC4375103
PMID:
25712990
Boylan B, Rice AS, Dunn AL, Tarantino MD, Brettler DB, Barrett JC, Miller CH, Hemophilia Inhibitor Research Study Investigators., Hemophilia Inhibitor Research Study Investigators..
Characterization of the anti-factor VIII immunoglobulin profile in patients with hemophilia A by use of a fluorescence-based immunoassay.
J Thromb Haemost
.
2015;13
(1):
47-53.
PMCID:
PMC4383171
PMID:
25354263
Hinckley J, Di Paola J.
Genetic basis of congenital platelet disorders.
Hematology Am Soc Hematol Educ Program
.
2014;2014
(1):
337-42.
PMID:
25696876
Gonzalez-Alegre P, Di Paola J, Wang K, Fabbro S, Yu HC, Shaikh TH, Darbro BW, Bassuk AG.
Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?
Tremor Other Hyperkinet Mov (N Y)
.
2014;4:258.
PMCID:
PMC4219111
PMID:
25374765
Aleman MM, Byrnes JR, Wang JG, Tran R, Lam WA, Di Paola J, Mackman N, Degen JL, Flick MJ, Wolberg AS.
Factor XIII activity mediates red blood cell retention in venous thrombi.
J Clin Invest
.
2014;124
(8):
3590-600.
PMCID:
PMC4109540
PMID:
24983320
Di Paola J.
Understanding congenital platelet disorders.
Clin Adv Hematol Oncol
.
2014;12
(7):
461-3.
PMID:
25322327
Branchford BR, Ruegg K, Villalobos-Menuey E, Jacobson LJ, Di Paola JA, Manco-Johnson M.
FVIII/VWF ratio is not a reliable predictor of VWD in children.
Pediatr Blood Cancer
.
2014;61
(5):
936-9.
PMID:
24281894
Boulden Warren B, Di Paola JA.
Platelets join the world of "Omics".
Blood
.
2014;123
(16):
2446-7.
PMID:
24744250
Soucie JM, Miller CH, Kelly FM, Payne AB, Creary M, Bockenstedt PL, Kempton CL, Manco-Johnson MJ, Neff AT, Haemophilia Inhibitor Research Study Investigators..
A study of prospective surveillance for inhibitors among persons with haemophilia in the United States.
Haemophilia
.
2014;20
(2):
230-7.
PMCID:
PMC4519821
PMID:
24261612
Noetzli L, Sanz PG, Brodsky GL, Hinckley JD, Giugni JC, Giannaula RJ, Gonzalez-Alegre P, Di Paola J.
A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.
Gene
.
2014;533
(1):
447-50.
PMID:
24103481
Zhang W, McIver AL, Stashko MA, DeRyckere D, Branchford BR, Hunter D, Kireev D, Miley MJ, Norris-Drouin J, Stewart WM, Lee M, Sather S, Zhou Y, Di Paola JA, Machius M, Janzen WP, Earp HS, Graham DK, Frye SV, Wang X.
Discovery of Mer specific tyrosine kinase inhibitors for the treatment and prevention of thrombosis.
J Med Chem
.
2013;56
(23):
9693-700.
PMCID:
PMC3962266
PMID:
24219778
Onasoga-Jarvis AA, Leiderman K, Fogelson AL, Wang M, Manco-Johnson MJ, Di Paola JA, Neeves KB.
The effect of factor VIII deficiencies and replacement and bypass therapies on thrombus formation under venous flow conditions in microfluidic and computational models.
PLoS One
.
2013;8
(11):
e78732.
PMCID:
PMC3827262
PMID:
24236042
Kahr WH, Lo RW, Li L, Pluthero FG, Christensen H, Ni R, Vaezzadeh N, Hawkins CE, Weyrich AS, Di Paola J, Landolt-Marticorena C, Gross PL.
Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice.
Blood
.
2013;122
(19):
3349-58.
PMCID:
PMC3953091
PMID:
23861251
Mannuccio Mannucci P, Kyrle PA, Schulman S, Di Paola J, Schneppenheim R, Cox Gill J.
Prophylactic efficacy and pharmacokinetically guided dosing of a von Willebrand factor/factor VIII concentrate in adults and children with von Willebrand's disease undergoing elective surgery: a pooled and comparative analysis of data from USA and European Union clinical trials.
Blood Transfus
.
2013;11
(4):
533-40.
PMCID:
PMC3827397
PMID:
23736911
Hinckley JD, Abbott D, Burns TL, Heiman M, Shapiro AD, Wang K, Di Paola J.
Quantitative trait locus linkage analysis in a large Amish pedigree identifies novel candidate loci for erythrocyte traits.
Mol Genet Genomic Med
.
2013;1
(3):
131-141.
PMCID:
PMC3775389
PMID:
24058921
Miller CH, Rice AS, Boylan B, Shapiro AD, Lentz SR, Wicklund BM, Kelly FM, Soucie JM, Hemophilia Inhibitor Research Study Investigators..
Comparison of clot-based, chromogenic and fluorescence assays for measurement of factor VIII inhibitors in the US Hemophilia Inhibitor Research Study.
J Thromb Haemost
.
2013;11
(7):
1300-9.
PMCID:
PMC4477744
PMID:
23601690
Di Paola J.
SHPing in different directions in platelet production.
Blood
.
2013;121
(20):
4018-9.
PMID:
23682031
Flood VH, Friedman KD, Gill JC, Haberichter SL, Christopherson PA, Branchford BR, Hoffmann RG, Abshire TC, Dunn AL, Di Paola JA, Hoots WK, Brown DL, Leissinger C, Lusher JM, Ragni MV, Shapiro AD, Montgomery RR.
No increase in bleeding identified in type 1 VWD subjects with D1472H sequence variation.
Blood
.
2013;121
(18):
3742-4.
PMCID:
PMC3643771
PMID:
23520336
Branchford BR, Monahan PE, Di Paola J.
New developments in the treatment of pediatric hemophilia and bleeding disorders.
Curr Opin Pediatr
.
2013;25
(1):
23-30.
PMID:
23274430
Ahmad S, Ahmad A, Rancourt RC, Neeves KB, Loader JE, Hendry-Hofer T, Di Paola J, Reynolds SD, White CW.
Tissue factor signals airway epithelial basal cell survival via coagulation and protease-activated receptor isoforms 1 and 2.
Am J Respir Cell Mol Biol
.
2013;48
(1):
94-104.
PMCID:
PMC3547080
PMID:
23065128
Neeves KB, Onasoga AA, Hansen RR, Lilly JJ, Venckunaite D, Sumner MB, Irish AT, Brodsky G, Manco-Johnson MJ, Di Paola JA.
Sources of variability in platelet accumulation on type 1 fibrillar collagen in microfluidic flow assays.
PLoS One
.
2013;8
(1):
e54680.
PMCID:
PMC3552855
PMID:
23355889
Marchi R, Walton BL, McGary CS, Lin FC, Ma AD, Pawlinski R, Mackman N, Campbell RA, Di Paola J, Wolberg AS.
Dysregulated coagulation associated with hypofibrinogenaemia and plasma hypercoagulability: implications for identifying coagulopathic mechanisms in humans.
Thromb Haemost
.
2012;108
(3):
516-26.
PMCID:
PMC3627352
PMID:
22836883
Miller CH, Platt SJ, Rice AS, Kelly F, Soucie JM, Hemophilia Inhibitor Research Study Investigators..
Validation of Nijmegen-Bethesda assay modifications to allow inhibitor measurement during replacement therapy and facilitate inhibitor surveillance.
J Thromb Haemost
.
2012;10
(6):
1055-61.
PMCID:
PMC4477703
PMID:
22435927
Miller CH, Benson J, Ellingsen D, Driggers J, Payne A, Kelly FM, Soucie JM, Craig Hooper W, Hemophilia Inhibitor Research Study Investigators..
F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity.
Haemophilia
.
2012;18
(3):
375-82.
PMID:
22103590
Di Paola J.
Disability, impairment, and physical therapy utilization after arthroscopic partial meniscectomy in patients receiving workers' compensation.
J Bone Joint Surg Am
.
2012;94
(6):
523-30.
PMID:
22438001
Branchford BR, Di Paola J.
Making a diagnosis of VWD.
Hematology Am Soc Hematol Educ Program
.
2012;2012:161-7.
PMCID:
PMC5873588
PMID:
23233576
Hansen RR, Tipnis AA, White-Adams TC, Di Paola JA, Neeves KB.
Characterization of collagen thin films for von Willebrand factor binding and platelet adhesion.
Langmuir
.
2011;27
(22):
13648-58.
PMID:
21967679
Di Paola J, Johnson J.
Thrombocytopenias due to gray platelet syndrome or THC2 mutations.
Semin Thromb Hemost
.
2011;37
(6):
690-7.
PMID:
22102272
Di Paola J, Lethagen S, Gill J, Mannucci P, Manco-Johnson M, Bernstein J, Nichols WL, Bergman GE.
Presurgical pharmacokinetic analysis of a von Willebrand factor/factor VIII (VWF/FVIII) concentrate in patients with von Willebrand's disease (VWD) has limited value in dosing for surgery.
Haemophilia
.
2011;17
(5):
752-8.
PMID:
21689209
Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM, Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola J.
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.
Nat Genet
.
2011;43
(8):
738-40.
PMCID:
PMC6050511
PMID:
21765413
Fabbro S, Kahr WH, Hinckley J, Wang K, Moseley J, Ryu GY, Nixon B, White JG, Bair T, Schutte B, Di Paola J.
Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly.
Blood
.
2011;117
(12):
3430-4.
PMCID:
PMC3069679
PMID:
21263149
Flood VH, Gill JC, Morateck PA, Christopherson PA, Friedman KD, Haberichter SL, Branchford BR, Hoffmann RG, Abshire TC, Di Paola JA, Hoots WK, Leissinger C, Lusher JM, Ragni MV, Shapiro AD, Montgomery RR.
Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor.
Blood
.
2010;116
(2):
280-6.
PMCID:
PMC2910611
PMID:
20231421
Monahan PE, Di Paola J.
Recombinant factor IX for clinical and research use.
Semin Thromb Hemost
.
2010;36
(5):
498-509.
PMID:
20632248
James P, Di Paola J.
The application of genetics to inherited bleeding disorders.
Haemophilia
.
2010;16 Suppl 5:35-9.
PMID:
20590854
Björkman S, Blanchette VS, Fischer K, Oh M, Spotts G, Schroth P, Fritsch S, Patrone L, Ewenstein BM, Advate Clinical Program Group., Collins PW.
Comparative pharmacokinetics of plasma- and albumin-free recombinant factor VIII in children and adults: the influence of blood sampling schedule on observed age-related differences and implications for dose tailoring.
J Thromb Haemost
.
2010;8
(4):
730-6.
PMCID:
PMC2855866
PMID:
20398185
Collins PW, Blanchette VS, Fischer K, Björkman S, Oh M, Fritsch S, Schroth P, Spotts G, Astermark J, Ewenstein B, rAHF-PFM Study Group..
Break-through bleeding in relation to predicted factor VIII levels in patients receiving prophylactic treatment for severe hemophilia A.
J Thromb Haemost
.
2009;7
(3):
413-20.
PMID:
19143924
Young G, Ebbesen LS, Viuff D, Di Paola J, Konkle BA, Negrier C, Pasi J, Ingerslev J.
Evaluation of thromboelastography for monitoring recombinant activated factor VII ex vivo in haemophilia A and B patients with inhibitors: a multicentre trial.
Blood Coagul Fibrinolysis
.
2008;19
(4):
276-82.
PMID:
18469548
Hoots WK, Ebbesen LS, Konkle BA, Auerswald GK, Roberts HR, Weatherall J, Ferran JM, Ljung RC, Novoseven (F7HAEM-1505) Investigators..
Secondary prophylaxis with recombinant activated factor VII improves health-related quality of life of haemophilia patients with inhibitors.
Haemophilia
.
2008;14
(3):
466-75.
PMID:
18282155
Sharthkumar A, Greist A, Di Paola J, Winay J, Roberson C, Heiman M, Herbert S, Parameswaran R, Shapiro A.
Biologic response to subcutaneous and intranasal therapy with desmopressin in a large Amish kindred with Type 2M von Willebrand disease.
Haemophilia
.
2008;14
(3):
539-48.
PMID:
18312368
Abbott D, Di Paola J.
VWD type 1: a calculated diagnosis.
Blood
.
2008;111
(8):
3919-20.
PMID:
18434968
Jobe SM, Wilson KM, Leo L, Raimondi A, Molkentin JD, Lentz SR, Di Paola J.
Critical role for the mitochondrial permeability transition pore and cyclophilin D in platelet activation and thrombosis.
Blood
.
2008;111
(3):
1257-65.
PMCID:
PMC2214770
PMID:
17989312
Di Paola J, Smith MP, Klamroth R, Mannucci PM, Kollmer C, Feingold J, Kessler C, Pollmann H, Morfini M, Udata C, Rothschild C, Hermans C, Janco R.
ReFacto and Advate: a single-dose, randomized, two-period crossover pharmacokinetics study in subjects with haemophilia A.
Haemophilia
.
2007;13
(2):
124-30.
PMID:
17286764
Di Paola J, Aledort L, Britton H, Carcao M, Grabowski E, Hutter J, Journeycake J, Kempton C, Leissinger C.
Application of current knowledge to the management of bleeding events during immune tolerance induction.
Haemophilia
.
2006;12
(6):
591-7.
PMID:
17083508
Jobe SM, Leo L, Eastvold JS, Dickneite G, Ratliff TL, Lentz SR, Di Paola J.
Role of FcRgamma and factor XIIIA in coated platelet formation.
Blood
.
2005;106
(13):
4146-51.
PMCID:
PMC1895237
PMID:
16105983
Shafagh H, Soltani MA, Douvoyiannis M, Widness J, Di Paola J, Yadav N, Jatzlau A, Pohl J, Weir M.
Index of suspicion.
Pediatr Rev
.
2005;26
(12):
461-6.
PMID:
16327027
Di Paola J.
Determinants of bleeding severity in von Willebrand disease.
Curr Hematol Rep
.
2005;4
(5):
345-9.
PMID:
16131434
Di Paola J, Jugessur A, Goldman T, Reiland J, Tallman D, Sayago C, Murray JC.
Platelet glycoprotein I(b)alpha and integrin alpha2 beta1 polymorphisms: gene frequencies and linkage disequilibrium in a population diversity panel.
J Thromb Haemost
.
2005;3
(7):
1511-21.
PMID:
15978109
Shapiro AD, Di Paola J, Cohen A, Pasi KJ, Heisel MA, Blanchette VS, Abshire TC, Hoots WK, Lusher JM, Negrier C, Rothschild C, Roth DA.
The safety and efficacy of recombinant human blood coagulation factor IX in previously untreated patients with severe or moderately severe hemophilia B.
Blood
.
2005;105
(2):
518-25.
PMID:
15383463
Di Paola J.
Product selection issues in the management of hemophilia B.
Blood Coagul Fibrinolysis
.
2004;15 Suppl 2:S17-8.
PMID:
15322454
Jobe S, Donohoue P, Di Paola J.
Deep venous thrombosis and Turner syndrome.
J Pediatr Hematol Oncol
.
2004;26
(4):
272.
PMID:
15087960
Di Paola J, Goldman T, Qian Q, Patil SR, Schutte BC.
Breakpoint of a balanced translocation (X:14) (q27.1;q32.3) in a girl with severe hemophilia B maps proximal to the factor IX gene.
J Thromb Haemost
.
2004;2
(3):
437-40.
PMID:
15009460
Leo L, Di Paola J, Judd BA, Koretzky GA, Lentz SR.
Role of the adapter protein SLP-76 in GPVI-dependent platelet procoagulant responses to collagen.
Blood
.
2002;100
(8):
2839-44.
PMID:
12351393
Di Paola JA, Buchanan GR.
Immune thrombocytopenic purpura.
Pediatr Clin North Am
.
2002;49
(5):
911-28.
PMID:
12430619
Di Paola J, Nugent D, Young G.
Current therapy for rare factor deficiencies.
Haemophilia
.
2001;7 Suppl 1:16-22.
PMID:
11240614
Di Paola J, Federici AB, Mannucci PM, Canciani MT, Kritzik M, Kunicki TJ, Nugent D.
Low platelet alpha2beta1 levels in type I von Willebrand disease correlate with impaired platelet function in a high shear stress system.
Blood
.
1999;93
(11):
3578-82.
PMID:
10339461
Doncel GF, Di Paola JA, Lustig L.
Sequential study of the histopathology and cellular and humoral immune response during the development of an autoimmune orchitis in Wistar rats.
Am J Reprod Immunol
.
1989;20
(2):
44-51.
PMID:
2803528
Last updated: 02/23/2021
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